Concepedia

Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease

Vuk Koprivica, Deborah L. Stone, Joseph K. Park, Megan Callahan, Amos Frisch, Ian J. Cohen, Nahid Tayebi, Ellen Sidransky

The American Journal of Human Genetics · 2000 · 334 citations · 35 references

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References

35

The human glucocerebrosidase gene and pseudogene: Structure and evolution

Mia Horowitz, Sylvia Wilder, Zeev Horowitz et al. · Genomics · 1989 · 433 citations

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Accumulation of Glucosylceramide and Glucosylsphingosine (Psychosine) in Cerebrum and Cerebellum in Infantile and Juvenile Gaucher Disease

Olle Nilsson, Lars Svennerholm · Journal of Neurochemistry · 1982 · 285 citations

, , +13

Hematologically important mutations: Gaucher disease

Ernest Beutler, Terri Gelbart, C. Ronald Scott · Blood Cells Molecules and Diseases · 2005 · 244 citations

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Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

Aya Abrahamov, Deborah Elstein, Ari Zimran et al. · The Lancet · 1995 · 212 citations

, , +17

Mutations in Jewish patients with Gaucher disease

Ernest Beutler, Terri Gelbart, W Kühl et al. · Blood · 1992 · 127 citations · Full text

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